User profiles for C. E. Shaw
Christopher E ShawInstitute of Psychiatry, King's College London Verified email at kcl.ac.uk Cited by 71033 |
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
…, R Gwilliam, P Deloukas, A Al-Chalabi, CE Shaw… - Nature …, 2009 - nature.com
We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD)
involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 …
involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 …
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically
by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 …
by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 …
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
…, J De Belleroche, JM Gallo, CC Miller, CE Shaw - Science, 2009 - science.org
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is familial in 10%
of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (…
of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (…
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
…, R Gwilliam, P Deloukas, A Al-Chalabi, CE Shaw… - Nature …, 2011 - nature.com
We sought to identify new susceptibility loci for Alzheimer's disease through a staged
association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease …
association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease …
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Algorithms designed to identify canonical yeast prions predict that around 250 human
proteins, including several RNA-binding proteins associated with neurodegenerative disease, …
proteins, including several RNA-binding proteins associated with neurodegenerative disease, …
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
TDP-43 is a predominantly nuclear RNA-binding protein that forms inclusion bodies in
frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The mRNA …
frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The mRNA …
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
…, J Veldink, V Silani, N Ticozzi, CE Shaw… - Science, 2015 - science.org
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …
Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an [11C](R)-PK11195 positron emission tomography study
Microglial activation is implicated in the pathogenesis of ALS and can be detected in animal
models of the disease that demonstrate increased survival when treated with anti-…
models of the disease that demonstrate increased survival when treated with anti-…
[PDF][PDF] Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations
The RNA-binding protein TDP-43 regulates RNA metabolism at multiple levels, including
transcription, RNA splicing, and mRNA stability. TDP-43 is a major component of the …
transcription, RNA splicing, and mRNA stability. TDP-43 is a major component of the …
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
…, M De Visser, A Goris, M Weber, CE Shaw… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …